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suck abstract from ncbi


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pmid8651287      Am+J+Hum+Genet 1996 ; 58 (6): 1111-9
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  • Heritability of X chromosome--inactivation phenotype in a large family #MMPMID8651287
  • Naumova AK; Plenge RM; Bird LM; Leppert M; Morgan K; Willard HF; Sapienza C
  • Am J Hum Genet 1996[Jun]; 58 (6): 1111-9 PMID8651287show ga
  • One of the two X chromosomes in each somatic cell of normal human females becomes inactivated very early in embryonic development. Although the inactivation of an X chromosome in any particular somatic cell of the embryonic lineage is thought to be a stochastic and epigenetic event, a strong genetic influence on this process has been described in the mouse. We have attempted to uncover evidence for genetic control of X-chromosome inactivation in the human by examining X chromosome-inactivation patterns in 255 females from 36 three-generation pedigrees, to determine whether this quantitative character exhibits evidence of heritability. We have found one family in which all seven daughters of one male and the mother of this male have highly skewed patterns of X-chromosome inactivation, suggesting strongly that this quantitative character is controlled by one or more X-linked genes in some families.
  • |*RNA, Untranslated[MESH]
  • |*X Chromosome[MESH]
  • |Alleles[MESH]
  • |Base Sequence[MESH]
  • |DNA Primers[MESH]
  • |DNA/blood[MESH]
  • |Female[MESH]
  • |Genomic Imprinting[MESH]
  • |Humans[MESH]
  • |Lymphocytes[MESH]
  • |Male[MESH]
  • |Methylation[MESH]
  • |Molecular Sequence Data[MESH]
  • |Pedigree[MESH]
  • |Phenotype[MESH]
  • |Polymerase Chain Reaction[MESH]
  • |Polymorphism, Genetic[MESH]
  • |RNA, Long Noncoding[MESH]
  • |Receptors, Androgen/*genetics[MESH]
  • |Reference Values[MESH]
  • |Sex Chromosome Aberrations/*genetics[MESH]


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